Results 21 to 30 of about 3,441,901 (408)

Relaxation of dynamically disordered tetragonal platelets in the relaxor ferroelectric $0.964\mathrm{Na}_{1/2}\mathrm{Bi}_{1/2}\mathrm{TiO}_3-0.036\mathrm{BaTiO}_3$ [PDF]

Phys. Rev. B 96, 184107 (2017), 2017
The local dynamics of the lead-free relaxor $0.964\mathrm{Na}_{1/2}\mathrm{Bi}_{1/2}\mathrm{TiO}_3-0.036\mathrm{BaTiO}_3$ (NBT-3.6BT) have been investigated by a combination of quasielastic neutron scattering (QENS) and ab initio molecular dynamics ...
Albe, Karsten, Donner, Wolfgang, Ivanov, Alexandre, Major, Márton, Meyer, Kai-Christian, Pforr, Florian, Stuhr, Uwe   +6 more
core   +2 more sources

Studies of a familial platelet disorder [PDF]

Blood, 1985
Abstract At least 22 members of a large kindred have a bleeding tendency resulting from an autosomal dominant disorder of platelet production and function. Phenotypic manifestations include mild to moderate thrombocytopenia, bleeding time prolongation, and abnormal platelet aggregation. Platelet survival time is normal.
Diana S. Beardsley, SB Dowton, Frederick P. Li, Dean T. Jamison, S Blattner   +4 more
semanticscholar   +6 more sources

Restoring RUNX1 deficiency in RUNX1 familial platelet disorder by inhibiting its degradation. [PDF]

Blood Adv, 2021
RUNX1 familial platelet disorder (RUNX1-FPD) is an autosomal dominant disorder caused by a monoallelic mutation of RUNX1, initially resulting in approximately half-normal RUNX1 activity.
Krutein MC, Hart MR, Anderson DJ, Jeffery J, Kotini AG, Dai J, Chien S, DelPriore M, Borst S, Maguire JA, French DL, Gadue P, Papapetrou EP, Keel SB, Becker PS, Horwitz MS.   +15 more
europepmc   +2 more sources

Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. [PDF]

Blood Adv, 2021
Accurate and consistent sequence variant interpretation is critical to the correct diagnosis and appropriate clinical management and counseling of patients with inherited genetic disorders. To minimize discrepancies in variant curation and classification
Ross JE, Zhang BM, Lee K, Mohan S, Branchford BR, Bray P, Dugan SN, Freson K, Heller PG, Kahr WHA, Lambert MP, Luchtman-Jones L, Luo M, Perez Botero J, Rondina MT, Ryan G, Westbury S, Bergmeier W, Di Paola J.   +18 more
europepmc   +2 more sources

Platelets in psychiatric disorders

World Journal of Psychiatry, 2012
Several parallels exist between platelets and the brain, which make them interesting for studying the neurobiology of psychiatric disorders, such as Alzheimer's disease, depression, schizophrenia and anxiety disorders. Platelets store, secrete and process the amyloid precursor protein which is cleaved into the β-amyloid (Aβ) peptides.
Daniela Ehrlich, Christian Humpel
openaire   +3 more sources

Thrombin generation abnormalities in Quebec platelet disorder. [PDF]

Int J Lab Hematol, 2020
Calibrated automated thrombograms (CAT) with platelet‐poor (PPP) and platelet‐rich plasma (PRP) have provided useful insights on bleeding disorders. We used CAT to assess thrombin generation (TG) in Quebec platelet disorder (QPD)—a bleeding disorder ...
Brunet JG, Sharma T, Tasneem S, Liang M, Wilson MD, Rivard GE, Hayward CPM.   +6 more
europepmc   +2 more sources

Increased expression of urokinase plasminogen activator in Quebec platelet disorder is linked to megakaryocyte differentiation

Blood, 2008
Quebec platelet disorder (QPD) is an inherited bleeding disorder associated with increased urokinase plasminogen activator (uPA) in platelets but not in plasma, intraplatelet plasmin generation, and alpha-granule protein degradation.
D. Kika Veljkovic, Georges E. Rivard, Maria Diamandis, Jessica Blavignac, Elisabeth M. Cramer, Catherine P.M. Hayward   +5 more
openalex   +3 more sources

Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation

Blood, 2005
Germ-line heterozygous mutations in the hematopoietic transcription factor AML1 (RUNX1) have been identified in patients with familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML), which is characterized by ...
Paula G. Heller, Ana C. Glembotsky, Manish J. Gandhi, Carrie L. Cummings, Carlos J. Pirola, Rosana F. Marta, Laura Kornblihtt, Jonathan G. Drachman, Felisa C. Molinas   +8 more
openalex   +2 more sources

A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies

Haematologica, 2007
We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies.
Keita Kirito, Kumi Sakoe, Daisuke Shinoda, Yoshihisa Takiyama, K Kaushansky, Norio Komatsu   +5 more
openalex   +3 more sources

Enhancer-gene rewiring in the pathogenesis of Quebec platelet disorder.

Blood, 2020
Quebec Platelet Disorder (QPD) is an autosomal dominant bleeding disorder with a unique, platelet-dependent gain-of-function defect in fibrinolysis, without systemic fibrinolysis.
Liang M, Soomro A, Tasneem S, Abatti LE, Alizada A, Yuan X, Uusküla-Reimand L, Antounians L, Alvi SA, Paterson AD, Rivard GÉ, Scott IC, Mitchell JA, Hayward CPM, Wilson MD.   +14 more
europepmc   +2 more sources